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儿童室管膜瘤中出现复杂核型,包括 t(2;11):病例报告及文献复习。

A complex karyotype including a t(2;11) in a paediatric ependymoma: case report and review of the literature.

机构信息

Department of Paediatric Haematology/Oncology, University of Turin, Piazza Polonia, 94, 10126 Torino, Italy.

出版信息

J Neurooncol. 2010 Aug;99(1):141-6. doi: 10.1007/s11060-009-0108-x. Epub 2010 Jan 12.

Abstract

Ependymomas are glial tumours representing approximately 5-10% of all intracranial tumours and are the third most common primary brain tumour in childhood. Only a few karyotypic studies on paediatric ependymomas have been published and no specific chromosomal aberration has been specifically related to this type of cancer. We performed cytogenetic analysis of an ependymoma in an 11-year-old boy. Our patient showed a complex karyotype, characterized by a near-tetraploidy and a sole structural unbalanced aberration: der(2)t(2;11)(q11.2;q13.1), which has not been described before. We here discuss such cytogenetic findings, comparing our data with those reported in the literature.

摘要

室管膜瘤是神经胶质肿瘤,约占颅内肿瘤的 5-10%,是儿童期第三大常见原发性脑肿瘤。仅有少数儿科室管膜瘤的核型研究发表,没有特定的染色体异常与这种癌症有关。我们对一名 11 岁男孩的室管膜瘤进行了细胞遗传学分析。我们的患者表现出复杂的核型,特征为近四倍体和单一的结构不平衡畸变:der(2)t(2;11)(q11.2;q13.1),以前没有描述过。我们在这里讨论了这些细胞遗传学发现,并将我们的数据与文献报道进行了比较。

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